Hearing, Voice and Speech Disorders in 10-Year-Old-Boy with Facio-Scapulo-Humeral Dystrophy (FSHD) – Case Study

There have been numerous researches showing that articulation disorders and malocclusion are linked. The most prevalent malocclusion in speech or articulation disorders is anterior open bite (AOB). Excessive propulsion of the tongue forward when articulating phonemes causes altered articulation in patients with open bites, as the tongue is in a more forward posture. The presence of this speech disorder can have a negative impact on a person's quality of life, although there hasn't been much research done on the impacts of AOB in cases of speech disorders in children. This study was to look at the link between speech disorders and the occurrence of anterior open bites (AOB) in a comprehensive way. Search results of research on four databases, namely ScienDirect, PubMed, Spingerlink, and Google Scholar, are displayed. The keywords used include speech disorder, articulation disorder, open bite, anterior open bite. Five articles were selected using case control and cross-sectional methods in their research. The sample with AOB in this study was analyzed to determine the presence of speech disorders. The five articles gave similar results, showing that patients with malocclusion, especially AOB, had a tendency to have speech disorders. Articulation disorders in the phoneme /s/z/d/l/t/ become the dominant problem experienced by patients with AOB. Anterior open bite (AOB) is a form of malocclusion that causes more articulation disorders than other malocclusions. The presence and position of the tongue are thought to have a substantial influence on articulation disorders.

Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy affecting both pediatric and adult patients. This article reviews the phenotype and pathophysiology of the disease as well as the recent efforts in clinical outcome measures and clinical trials. As the name implies, FSHD involves weakness of facial muscles, muscles that fix the scapula, and muscles overlying the humerus (biceps and triceps). The distinctive phenotype of FSHD occurs secondary to two different genetic mechanisms. FSHD type 1 (FSHD1) is due to a deletion on chromosome 4q, leading to hypomethylation and derepression of DUX4. FSHD type 2 (FSHD2) is due to mutations in SMCHD1 with resulting hypomethylation of the same subtelomeric region of chromosome 4q and derepression of DUX4. Understanding the central role of DUX4 has opened up the possibility of disease-modifying treatments. In preparation for clinical trials of novel agents, researchers are in the process of validating a number of clinical trial outcome measures including MRI, the 6-minute walk test, the FSHD Composite Outcome Measure, reachable workspace, electrical impedance myography, and the FSHD Health Index. The treatment of FSHD is currently supportive only. While past clinical trials in FSHD have been largely disappointing, novel agents in development, including antisense oligonucleotides, gene therapy, and small molecules, hold promise for future meaningful therapies.

We have systematically tested the peripheral auditory system in 21 late-onset FSHD cases. The pure tone thresholds did not differ significantly at low and mid frequencies in either better ear or worse ear between FSHD subjects and controls. The patients with FSHD had significantly better hearing thresholds at 4 and 6 kHz than the normative data in the better and the worse ears. Transient evoked otoacoustic emissions (TEOAEs) were recorded as an objective and sensitive method for evaluating cochlear function. A significantly lower occurrence of TEOAEs was found in the FSHD patients with hearing thresholds better than 20 dB HL. Furthermore, this study provides evidence for the neuromuscular abnormalities of FSHD through its findings on the relaxation time of the acoustic stapedial reflex. A significantly longer relaxation time was found in patients with FSHD. No significant correlations were found between age and severity, or between duration and severity. Moreover, there were no significant correlations be...

Background and ObjectivesData on the natural history of facioscapulohumeral dystrophy (FSHD) in childhood are limited and critical for improved patient care and clinical trial readiness. Our objective was to describe the disease course of FSHD in children.MethodsWe performed a nationwide, single-center, prospective cohort study of FSHD in childhood assessing muscle functioning, imaging, and quality of life over 2 years of follow-up.ResultsWe included 20 children with genetically confirmed FSHD who were 2 to 17 years of age. Overall, symptoms were slowly progressive, and the mean FSHD clinical score increased from 2.1 to 2.8 (p = 0.003). The rate of progression was highly variable. At baseline, 16 of 20 symptomatic children had facial weakness; after 2 years, facial weakness was observed in 19 of 20 children. Muscle strength did not change between baseline and follow-up. The most frequently and most severely affected muscles were the trapezius and deltoid. The functional exercise capacity, measured with the 6-minute walk test, improved. Systemic features were infrequent and nonprogressive. Weakness-associated complications such as lumbar hyperlordosis and dysarthria were common, and their prevalence increased during follow-up. Pain and fatigue were frequent complaints in children, and their prevalence also increased during follow-up. Muscle ultrasonography revealed a progressive increase in echogenicity.DiscussionFSHD in childhood has a slowly progressive but variable course over 2 years of follow-up. The most promising outcome measures to detect progression were the FSHD clinical score and muscle ultrasonography. Despite this disease progression, an improvement on functional capacity may still occur as the child grows up. Pain, fatigue, and a decreased quality of life were common symptoms and need to be addressed in the management of childhood FSHD. Our data can be used to counsel patients and as baseline measures for treatment trials in childhood FSHD.

Clinical Functional Capacity Testing in Patients With Facioscapulohumeral Muscular Dystrophy: Construct Validity and Interrater Reliability of Antigravity Tests

In preparation for future clinical trials, we determined the reliability, relationship to measures of disease severity, and consistency across sites of the 6 Minute Walk Test (6MWT) in patients with facioscapulohumeral muscular dystrophy (FSHD). Genetically defined and clinically affected FSHD participants at 2 sites performed the 6MWT, the Timed Up and Go, and the 30 foot Go/Timed 10 meter test as measures of mobility using standard procedures. Eight-six participants representing the full range of severity performed the 6MWT. The mean 6MWT distance was 404.3 meters (SD 123.9), with no difference between sites. The 6MWT was reliable (n = 25; intraclass correlation coefficient = 0.99) and demonstrated moderate to strong correlations with lower extremity strength, functional outcomes, and FSHD Clinical Score. The 6MWT is reliable and is associated with other measures of FSHD disease severity. Future directions include assessing its sensitivity to disease progression. Muscle Nerve 55: 333-337, 2017.

Benefits of intensive speech treatment have been documented for a range of speech signs in English speakers with Parkinson's Disease (PD). However, the answer to a critical question that whether the same treatment benefits speech variables including intelligibility in Mandarin speakers is still unclear. In order to develop a targeted speech treatment for Mandarin speakers with PD, we reviewed the efficacy of intensive speech treatment to improve vocal loudness and functional communication and discuss possible explanations for efficacy on Mandarin speakers with PD. Literatures about intensive speech treatment for Mandarin speakers with PD were retrieved from PubMed, Web of Science, Embase, China National Knowledge Infrastructure (CNKI), Wanfang and Weipu Database for Chinese Technical Periodicals (VIP) Database. Search strategy was (voice therapy OR speech therapy OR voice treatment OR speech treatment OR voice training OR speech training OR voice rehabilitation OR speech rehabilitation OR Lee Silverman voice treatment OR intensive speech treatment) and (Parkinson's disease) and (Mandarin speakers OR Chinese OR Chinese people). Five randomized controlled trials were selected and possible explanations for efficacy on individuals with PD are discussed. Further research directions are suggested. The existing evidence from treatment efficacy studies of intensive speech treatment provides support for improving vocal loudness, speech intelligibility, pitch and rate in Mandarin speakers with PD. Our future research will continue to work to conduct a large sample multicenter randomized controlled trial to provide high quality evidence and understand the basic mechanisms accompanying treatment-related change.

Systematic review of outcome measures in facioscapulohumeral dystrophy (FSHD): validated, usable, and feasible tools for assessing function, performance, and strength.

184th ENMC international workshop: Pain and fatigue in neuromuscular disorders: 20–22 May 2011, Naarden, The Netherlands

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder with a shortened fragment of a D4Z4 repeat on chromosome 4q35. The infantile form of FSHD is relatively rare. Within this case report, we describe the orthognatic surgery in a patient with infantile FSHD to diminish the functional and esthetic disturbances in the orofacial region. We saw a 20-year-old female patient suffering from infantile FSHD with remarkable macroglossia and frontal open bite. Diagnosis was based on molecular genetic investigations. To improve the functions of the stomatognathic system, we performed a tongue reduction and a segment osteotomy in the frontal aspect of the mandible. The patient was satisfied with the functional and esthetic results. Lip competence and occlusion were significantly improved. Thus, orthognatic surgery can enhance oral function, facial esthetics, and general quality of life.

Neuromuscular Electrical Stimulation Training: A Safe and Effective Treatment for Facioscapulohumeral Muscular Dystrophy Patients

The purpose of this study was to determine the prevalence of speech and language disorders in French-speaking preschool-age children in Yaoundé, the capital city of Cameroon. A total of 460 participants aged 3-5 years were recruited from the 7 communes of Yaoundé using a 2-stage cluster sampling method. Speech and language assessment was undertaken using a standardized speech and language test, the Evaluation du Langage Oral (Khomsi, 2001), which was purposefully renormed on the sample. A predetermined cutoff of 2 SDs below the normative mean was applied to identify articulation, expressive language, and receptive language disorders. Fluency and voice disorders were identified using clinical judgment by a speech-language pathologist. Overall prevalence was calculated as follows: speech disorders, 14.7%; language disorders, 4.3%; and speech and language disorders, 17.1%. In terms of disorders, prevalence findings were as follows: articulation disorders, 3.6%; expressive language disorders, 1.3%; receptive language disorders, 3%; fluency disorders, 8.4%; and voice disorders, 3.6%. Prevalence figures are higher than those reported for other countries and emphasize the urgent need to develop speech and language services for the Cameroonian population.

Aims: This study investigated the relationship between speech and language disorders in children and their levels of vitamin D (25(OH)D3), vitamin B12, and iron. Methods: A total of 163 children participated in the study. Among 111 children diagnosed with speech and language disorders, the distribution included stuttering (n=12), articulation disorder (n=55), developmental language disorder (n=36), fluency disorder (n=4), atypical autism (n=3), and rapid speech disorder (n=1). Additionally, 52 healthy children were included as a control group. The levels of iron, vitamin B12, and vitamin D were recorded for both groups. Results: Average levels in the study group were as follows: vitamin D at 24.88±14.788 ng/ml, vitamin B12 at 267.43±174.523 pg/ ml, and iron at 74.19±34.479 µg/dl. Iron levels were significantly lower in children with speech disorders compared to those in the control group (z=1.986, p=0.049). However, no significant differences were found among the various subgroups of speech disorders in terms of iron, vitamin B12, or vitamin D levels. A positive correlation was observed between vitamin D and vitamin B12 levels within the speech disorder group (p

We examined the safety and effectiveness of a low dose of analog granulocyte-colony stimulating factor in a 15-year-old boy with facioscapulohumeral dystrophy. The onset of disease was noted at 12 years of age. The physical examination noted general muscle atrophy more pronounced at left side of the body. He was able to walk 300 meters within 6 minute walk test. Granulocyte colony-stimulating factor 5 μg/kg was given subcutaneously daily for 5 days/month for 1, 2, 3, 6 and 12 months. Clinical examination, laboratory tests including blood, biochemical tests, and CD34+ cells were performed. A significant increase of muscle strength in the lower and upper limbs between baseline, and after 3 months of treatment, after 6, and after 12 months was found. He was able to walk 480 meters within 6 minutes after 12 months. Electromyography demonstrated increase of amplitude in the examined in upper and lower limbs after six months compared to baseline. Leukocyte levels remained below 25000/μL. CD34+ increased significantly at day 5 of granulocyte colony-stimulating factor admini-stration. It was safe and well tolerated by the patient. A significant increase in muscle strength in this patient with facioscapulohumeral dystrophy after 3 months of treatment, after 6, and after 12 months since the first treatment course was completed may indicate beneficial effects of granulocyte colony-stimulating factor in this disorder.

A prospective observational study was conducted to evaluate the presence of swallowing, speech and orofacial muscle imbalance (OMI) disorders in patients with adenotonsillar hypertrophy and their regression after surgery. ENT, speech therapist and dentistry examination were conducted before and 12 months after surgery in 78 children between the ages of 2 and 12 with dysphagia, speech disorders and OMI adenotonsillar hypertrophy related with sleep-disordered breathing. Of the 78 patients enrolled, 62 underwent adenotonsillectomy, 9 adenoidectomy and 7 volume reduction of the palatine tonsils with a 12-month post-operative increase in SWAL-QOL score, weight gain, correction of ogival palate, dental crowding and tongue posture and consequent resolution of phono-articulatory disorders. All patients show an improvement in swallowing, phono -articulatory disorders’ symptoms and OMI correction at 12-month evaluation.